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A girl with Down syndrome and partial trisomy for 21pter-q22.13: A clue to narrow the Down syndrome critical region

✍ Scribed by Daisuke Sato; Hiroki Kawara; Osamu Shimokawa; Naoki Harada; Hidefumi Tonoki; Nobuhiro Takahashi; Yumi Imai; Hiromi Kimura; Naomichi Matsumoto; Tadashi Ariga; Norio Niikawa; Koh-ichiro Yoshiura


Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
201 KB
Volume
146A
Category
Article
ISSN
1552-4825

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Molecular and cytogenetic characterizati
✍ Sebastio, Gianfranco; Perone, Lucia; Guzzetta, Vito; Sebastio, Lucia; Vicari, La πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 45 KB πŸ‘ 1 views

We report on an aneuploidy syndrome due to the unbalanced segregation of a familial translocation (4;21)(p16.3;q22.1) causing a partial 4p monosomy and a partial 21q trisomy. The three affected children presented with severe failure to thrive, short stature, microcephaly, profound hypotonia, and men